trichorhinophalangeal syndrome type 2 (Langer-Giedion syndrome)

Genetics

• associated defects in EXT1 & TRPS1
• contiguous gene syndrome due to deletions in chromosome 8q24.1 & resulting in the loss of functional copies of EXT1 & TRPS1

More general terms

• trichorhinophalangeal syndrome

Additional terms

• zinc finger transcription factor Trps1; tricho-rhino-phalangeal syndrome type I protein; zinc finger protein GC79 (TRPS1)

Database

• OMIM: https://mirror.omim.org/entry/150230